Old-Age Blindness Risk Explained

Researchers have finally figured out why people who have a single mutation in a gene called CFH are at serious risk for age-related macular degeneration, or AMD (Nature, DOI: 10.1038/nature10449). Some two-thirds of people over the age of 80 will get AMD (Nature, DOI: 10.1038/478042a), which is caused by the buildup of cell waste on the retina from the continuous barrage of photons on the eye. Now, Christoph J. Binder, a medical researcher at the Austrian Academy of Sciences, in Vienna, and colleagues have discovered that the CFH mutation impedes the binding of the CFH protein and a common photodegradation product called malondialdehyde. When this binding can’t occur, malondialdehyde cannot be cleared from the surface of the retina and builds up, causing AMD. “By combining in vitro and in vivo data from human patients and animal models, the authors provide a plausible explanation for the cause of this devastating chronic disease,” note University of Miami researchers Fernando Cruz-Guilloty and Victor L. Perez in an associated commentary.